DiCicco et al. (2016) report the case of a 33-year-old male with multiple papules on the face and trunk and a periungual papule on a digit of the right hand. Histology analysis found an angiofibroma on a facial papule, fibrofolliculomas on the papules of the trunk and, unique to this case, the presence of a Koenen’s tumour on the digit lesion. The patient also reported a family history of facial papules and pneumothoraces. BHD diagnosis was confirmed by gene analysis of FLCN. Koenen’s tumours are typically associated with tuberous sclerosis complex (TS), however, genetic analysis of the patient found no mutations indicative of TS. Significant cutaneous and internal manifestations are similar between BHD and TS. In addition, both FLCN and TS proteins appear to play important roles in the mTOR pathway. This case adds to the list of cutaneous manifestations of BHD and illustrates the overlap between BHD and TS and how genetic testing is important to establish the correct diagnosis. This report is freely available to download in the BHD Article Library: Clinical section.
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This article is very true…I was diagnosed with Angiofibroma and was TSC negative BHD positive.